Intrauterine diagnosis and follow-up of a child with Goldenhar Syndrome: case report / Diagnóstico intrauterino e seguimento de uma criança com Síndrome de Goldenhar: relato de caso

Abstract Introduction: goldenhar syndrome is a rare congenital syndrome that affects the craniofacial morphogenesis. It is a complex syndrome, with heterogeneous presentation which the diagnosis can still be performed in the intrauterine through morphological ultrasound. Description: a case report of a 4-year-old male patient diagnosed with Goldenhar syndrome, along with its clinical presentation, diagnostic investigation and follow-up. Discussion: the follow-up on these patients remains a challenge, since it can affect different systems and with different presentations. The earlier the diagnosis is performed, the greater the patient's chances of having a favorable prognosis with multidisciplinary stimulation. The objective of this article is to contribute to the medical literature, in order to assist in the diagnosis and management of future cases.

Resumo Introdução: a síndrome de Goldenhar é uma síndrome congênita rara que afeta a morfogênese craniofacial. Trata-se de uma síndrome complexa, de apresentação heterogênea, cujo diagnóstico pode ser realizado ainda intra-útero através do ultrassom morfológico. Descrição: relato de caso de um paciente do sexo masculino de quatro anos, com diagnóstico de síndrome de Goldenhar, sua apresentação clínica, a investigação diagnóstica e seguimento. Discussão: o acompanhamento desses pacientes continua sendo um desafio, já que pode acometer diversos sistemas e com apresentação diversa. O diagnóstico e a estimulação multiprofissional precoce, podem levar a maiores chances de um prognóstico favorável. O objetivo deste trabalho é contribuir para a literatura médica, de forma a auxiliar no diagnóstico e conduta perante futuros casos.

Research progress of ocular choristoma / 中国医师杂志

Ocular choristoma is composed of ectopic tissues with normal structures. The pathogenesis still remains uncertain. Histopathologically, it is a dense connective tissue mixed with epidermal appendages, smooth muscle cells, mature adipose tissue, lacrimal glands, lymph nodes, skeletal muscle fibers, cartilage and bone. Because of its low incidence, most of published literature are case reports. The clinical manifestations are non-specific and we need to distinguish it from other ocular masses. The choice of surgical resection depends on the ocular symptoms, the effect on appearance, and the need for clinical confirmation. This paper reviews the epidemiology, etiology, pathogenesis, clinical manifestations, diagnosis, differential diagnosis and treatment of ocular choristoma.

Oculo-auriculo-vertebral spectrum associated with aberrant subclavian artery in an infant with recurrent respiratory distress / Espectro oculoauriculovertebral associado à artéria subclávia aberrante em lactente com desconforto respiratório recorrente

ABSTRACT Objective: To describe an infant with craniofacial microsomia and recurrent respiratory distress associated with aberrant right subclavian artery in order to review its most frequent congenital anomalies and alert the pediatrician to its rarer and more severe complications. Case description: This case report involves an 18-month-old male infant, only son of non-consanguineous parents. At birth, the child presented craniofacial dysmorphisms (facial asymmetry, maxillary and mandibular hypoplasia, macrostomia, grade 3 microtia, and accessory preauricular tag) restricted to the right side of the face. Additional tests showed asymmetric hypoplasia of facial structures and thoracic hemivertebrae. No cytogenetic or cytogenomic abnormalities were identified. The patient progressed to several episodes of respiratory distress, stridor, and nausea, even after undergoing gastrostomy and tracheostomy in the neonatal period. Investigation guided by respiratory symptoms identified compression of the esophagus and trachea by an aberrant right subclavian artery. After surgical correction of this anomaly, the infant has not presented respiratory symptoms and remains under multidisciplinary follow-up, seeking rehabilitation. Comments: Craniofacial microsomia presents a wide phenotypic variability compared to both craniofacial and extracraniofacial malformations. The latter, similarly to the aberrant right subclavian artery, is rarer and associated with morbidity and mortality. The main contribution of this case report was the identification of a rare anomaly, integrating a set of malformations of a relatively common condition, responsible for a very frequent complaint in pediatric care.

RESUMO Objetivo: Descrever lactente com microssomia craniofacial e desconforto respiratório recorrente associado à artéria subclávia direita aberrante, com o intuito de revisar as anomalias congênitas mais frequentes e alertar o pediatra sobre suas complicações mais raras e de maior gravidade. Descrição do caso: Lactente do sexo masculino, 18 meses de idade e filho único de casal não consanguíneo. Ao nascimento, foram observadas dismorfias craniofaciais (assimetria facial, hipoplasia maxilar e mandibular, macrostomia, microtia grau 3 e apêndice na linha trago-oral) restritas ao lado direito da face. Os exames complementares evidenciaram hipoplasia assimétrica da face e hemivértebras torácicas. Não foram identificadas anormalidades citogenéticas ou citogenômicas. O paciente evoluiu com diversos episódios de desconforto respiratório, estridor e náuseas, mesmo tendo realizado gastrostomia e traqueostomia no período neonatal. A investigação direcionada para os sintomas respiratórios identificou a compressão de esôfago e traqueia por uma artéria subclávia direita aberrante. Após a correção cirúrgica dessa anomalia, o lactente não tem apresentado sintomas respiratórios e mantém seguimento multidisciplinar buscando reabilitação. Comentários: A microssomia craniofacial apresenta grande heterogeneidade fenotípica em relação às malformações tanto craniofaciais como extracraniofaciais. Estas últimas, como a artéria subclávia direita aberrante, são mais raras e associadas à morbimortalidade. A principal contribuição deste relato de caso foi o reconhecimento de uma anomalia rara, integrando um conjunto de malformações de uma condição relativamente comum e sendo responsável por uma queixa muito frequente no atendimento pediátrico.

Manejo multidisciplinario con terapia de electroestimulación en un paciente con síndrome de Goldenhar, trastorno de la deglución y falla para crecer / Multidisciplinary management with neuromuscular electrical stimulation therapy in a Goldenhar syndrome patient who presented swallowing disorder and failure to thrive

Resumen Introducción: El síndrome de Goldenhar es un trastorno heterogéneo, esporádico en su mayoría o por patrón de herencia autosómico dominante o recesivo, de la morfogénesis craneofacial asociada al primero y segundo arcos faríngeos, y forma parte del espectro oculoauriculovertebral. La incidencia es de 1 por cada 3500-45,000 recién nacidos vivos, con una razón de sexo masculino/femenino de 3:2. Caso clínico: Se presenta el caso de un recién nacido con fenotipo de síndrome oculoauriculovertebral. Se abordó con radiografía de tórax, ecografía abdominal y tamizaje metabólico y auditivo, que reportaron hemivértebra torácica, fusión costal, quiste renal e hipoacusia bilateral profunda, respectivamente. Fue alimentado con lactancia mixta desde el nacimiento, sin lograr una succión adecuada y con pérdida de peso. A los 3 meses de edad recibió terapia de rehabilitación oral con electroestimulación en conjunto de 10 sesiones con 10 mA de intensidad, al igual que a los 23, 24, 25, 27, 30 y 32 meses de edad. A los 4 meses, espesamiento de fórmula con cereal; a los 7 meses, sonda de gastrostomía; a los 20 meses, cirugía de paladar y macrostomía. Mostró mejoría en intensidad de babeo en las primeras 10 sesiones y mejoría en la deglución a las 30 sesiones. A los 3 años de edad consume el 100% de los alimentos por vía oral. Conclusiones: Con la escasa evidencia científica que este caso aislado aporta, el tratamiento con la terapia de rehabilitación en conjunto con la terapia convencional y la corrección anatómica dio resultados positivos para el trastorno de la deglución.

Abstract Background: Goldenhar syndrome is a heterogeneous disorder, mostly sporadic or due to a dominant autosomal or recessive pattern of inheritance, that exhibits craniofacial morphogenesis associated with the first and second pharyngeal arches and is part of the oculoauriculovertebral spectrum. Its incidence is of 1 in 3,500-45,000 live newborns, with a male to female ratio of 3:2. Case report: We describe the case of a male newborn with oculoauriculovertebral syndrome phenotype. It was approached with chest X-ray, abdominal ultrasound, metabolic and hearing screening, which reported thoracic hemivertebra, costal fusion, renal cyst, and profound bilateral hypoacusis, respectively. Although the newborn was fed with mixed lactation from birth, adequate suction and with weight loss were not achieved. At 3 months of age, as well as at 23, 24, 25, 27, 30 and 32 months of age, the infant received oral rehabilitation therapy with electrostimulation in a set of 10 sessions with 10 mA intensity. At 4 months, thickening of formula with cereal; at 7 months, gastrostomy tube; at 20 months, palate surgery and macrostomy. Improvement in drooling intensity was observed during the first 10 sessions, and improvement in swallowing after 30 sessions. At 3 years of age, the patient consumes 100% of food orally. Conclusions: According to limited scientific evidence that this isolated case provides, rehabilitation therapy together with conventional therapy coupled with anatomical correction gave positive results for swallowing disorder.

Síndrome de Goldenhar: Manifestaciones clínicas y revisión de literatura / Goldenhar Syndrome: clinical manifestation and literature review

El síndrome de Goldenhar es una condición rara cuya etiología aún no se ha establecido, forma parte de las anomalías del primer y segundo arco branquial, caracterizándose por una variedad de anomalías que involucran estructuras craneofaciales, vértebrales, órganos internos y generalmente ocurre de manera unilateral. A continuación se describe el caso de un neonato con microsomía hemifacial, microtia, apéndice preauricular e hipoplasia de pabellón auricular. Los diversos aspectos de esta enfermedad rara se han discutido con énfasis en el diagnóstico oportuno y el enfoque multidisciplinario para manejarla.

Goldenhar syndrome is a rare condition whose etiology has not yet been established, is part of the anomalies of the first and second branchial arch, characterized by a variety of abnormalities involving craniofacial structures, vertebrae, internal organs and usually occurs unilaterally. The following describes the case of a neonate with hemifacial microsomy, microtia, preauricular appendix and hypoplasia of the auricular pavilion. The various aspects of this rare disease have been discussed with emphasis on timely diagnosis and the multidisciplinary approach to managing it.

Anterior segment dysgenesis and secondary glaucoma in Goldenhar syndrome

A 3-year-old girl presented with a history of watering, haze and increase in the size of the right eye for two months. The child had bilateral preauricular skin tags, limbal dermoid and dermolipoma, consistant with the diagnosis of Goldenhad syndrome. In addition, her right eye manifested enlarged cornea, flat anterior chamber, atrophic iris and elevated intraocular pressure. This case report highlights a possible association of anterior segment dysgenesis and glaucoma with Goldenhar syndrome.

A rare case of Goldenhar syndrome: oculo-auriculo-vertebral spectrum

Franceschetti-Goldenhar syndrome or Goldenhar syndrome, also known as facio-auricular-spectrum (FAV), first and second branchial arch syndrome, or Oculo-Auriculo-Vertebral (OAV) spectrum is a rare congenital malformation which encompasses various morphological and functional abnormalities. The incidence of Goldenhar syndrome has been reported between 1:3500 to 1:5600 children, with a male: female ratio of 3:23. The incidence is higher, about 1 in 1000 children with congenital deafness. The exact etiology is not known. However, it is possible that abnormal embryonic vascular supply, disrupted mesodermal migration or some other factors leads to defective formation of the brachial and vertebral system. Most of the cases have been sporadic. Autosomal dominant, autosomal recessive and multifactorial modes of inheritance have also been suggested. Chromosomal studies have not revealed any abnormality. Authors report a case of a neonate with hemifacial microsomia, bilateral cleft lip and cleft palate, right deformed pinna, right facial palsy, single umbilical artery and congenital heart disease.

Goldenhar Syndrome: A Case Report

To report an unusual variant of Goldenhar syndrome We reviewed a 7 year old boy attending our OPD with left upper eyelid coloboma and multiple congenital deformities including auricular, facial and vertebral abnormalities like microtia, hemifacialmicrosomia, cleft palate, dental abnormalities, kyphoscoliosis and tilted optic disc. He underwent radiological imaging and thorough ocular & systemic examination which were suggestive of Goldenhar syndrome. The most common ocular finding of Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is epibulbar dermoid, which was absent in our case, instead there was upper-eyelid coloboma and tilted optic disc. However other facial, auricular and skeletal deformities were in concordance with the spectrum of Goldenhar Syndrome. Goldenhar syndrome consists of a large spectrum of congenital abnormalities and patients might not present with the most diagnostic ocular features. Hence, its diagnosis and treatment requires a multidisciplinary approach.

Goldenhar Syndrome in a pediatric patient: a case report and review of literature / Síndrome de Goldenhar em um paciente infantil: relato de caso e revisão da literatura

ABSTRACT Goldenhar Syndrome is a rare, generally sporadic condition, whose physical manifestations include asymmetric incomplete facial development, epibulbar dermoids, auricular malformations e auricular appendices, vertebral anomalies, central nervous system disturbances, ocular irregularities and visceral abnormalities. Its etiology is not fully understood, with its incidence ranging from 1:3500 to 1:5600 live births, and a gender ratio of 3:2 (male: female), presenting more frequently in children with congenital deafness. The purpose of this case report was to describe clinical presentation of Goldenhar syndrome in a five-year old male with no significant family history, where almost all of the classic signs of the condition were present. Considering its involvement in craniofacial structures, its rarity, and its wide spectrum of symptoms and associated systemic abnormalities, knowledge of this condition is paramount for the dental surgeon.

RESUMO A Síndrome de Goldenhar é rara e suas principais manifestações físicas incluem assimetria e desenvolvimento facial incompleto, tumores dermoides epibulbares, malformações na orelha e apêndices auriculares, anomalias vertebrais, distúrbios no sistema nervoso central, irregularidades oculares e anomalias viscerais. A etiologia desta condição não é claramente esclarecida e apresenta-se geneticamente variável. A incidência da Síndrome de Goldenhar pode variar de 1:3500 até 1:5600 nascidos vivos e relação por sexo de 3:2 (masculino: feminino), apresentando mais frequentemente em crianças com surdez congênita. O objetivo deste trabalho é apresentar um caso clínico de Síndrome de Goldenhar em paciente infantil de 5 anos de idade do sexo masculino, sem história familiar relevante relacionada à síndrome e que apresenta características claras desta condição. Considerando o envolvimento das estruturas craniofaciais da Síndrome de Goldenhar, sua raridade e o amplo espectro de sintomas e anormalidades sistêmicas associadas, o conhecimento desta condição é primordial para o cirurgião-dentista.

Síndrome de Goldenhar / Goldenhar syndrome

RESUMO Os autores apresentam um caso de síndrome de Goldenhar, com seus aspectos característicos e variações, observando uma criança do sexo masculino de 4 anos de idade no Serviço de Oftalmologia do Hospital São José na cidade de Teresópolis (RJ). O diagnóstico foi concluído devido às alterações externas e internas do paciente após ter sido avaliado pela pediatria, genética, otorrinolaringologia e oftalmologia. O espectro óculo-aurículo-vertebral (EOAV) conhecida como Síndrome de Goldenhar é uma condição rara, complexa e fenotipicamente variável. De origem ainda desconhecida é caracterizada por cistos dermóides epibulbares, apêndices auriculares e hipoplasia mandibular. Objetivamos com este relato de caso, dada a raridade desta síndrome e variedades do espectro de apresentação, aumentar o conhecimento da classe médica sobre este assunto, para facilitar seu reconhecimento e auxiliar condutas perante casos futuros.

ABSTRACT The authors present a case of Goldenhar syndrome, with its characteristic features and variations. A male child of four years old at the Ophthalmology Service, Hospital São José The diagnosis was completed due to external and internal changes of the patient, after being evaluated by pediatrics, genetics, otolaryngology and ophthalmology.The oculoauriculovertebral spectrum (OAVS) known as Goldenhar Syndrome is a rare, complex and phenotypically variable condition, of still unknown origin is characterized by dermoid cysts epibulbar, auricular appendices and mandibular hypoplasia. We aim to case report, given the rarity of this syndrome and varieties of presentation spectrum, increase knowledge of the medical profession on this subject, to facilitate recognition and help conduct before future cases.

Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia / Displasia óculo-aurículo-vertebral: aspectos clínicos de 41 pacientes brasileiros

SUMMARY Objective: To describe the most prominent clinical features of a cohort of patients with oculo-auriculo-vertebral (OAV) dysplasia in Brazil. Method: A review of medical records of patients with diagnosis of OAV from 1990 to 2010 was performed in a medical genetics center. Results: 41 patients were included in the study. Their average age at diagnosis was 2y 10mo (34,4±48,8 months) and the female proportion was 53.7%. Mean maternal age at patient’s birth was 28.5y (min: 17, max: 46y) for mothers and 31.4y (min: 21, max: 51y) for fathers. Most patients (97.5%) had auricular involvement, with facial manifestation in 90.2%, spinal in 65.9%, ocular in 53.7%, 36.6% with cardiovascular involvement, 29.3% urogenital, and 17% of the cases with central nervous system (CNS) involvement. The classic OAV triad was present in only 34%. All patients except one had concomitant problems in other organs or systems. Conclusion: Since the diagnosis of OAV dysplasia relies only on a comprehensive medical evaluation, it is imperative that clinicians be aware of the most common presentation of the syndrome. Once suspected, every patient should undergo a complete medical evaluation of multiple systems including complementary exams. Treatment of these patients is based on surgical correction of malformations and rehabilitation.

RESUMO Objetivo: descrever os principais achados clínicos de uma coorte de pacientes com a displasia óculo-aurículo-vertebral (OAV). Método: revisão de prontuários médicos dos pacientes com diagnóstico de OAV no período de 1990 a 2010, acompanhados em um centro de genética médica. Resultados: foram incluídos no estudo 41 pacientes. A média de idade ao diagnóstico foi de 2 anos e 10 meses (34,4±48,8 meses) e a proporção de pacientes do sexo feminino foi de 53,7%. A média de idade dos pais ao nascimento do paciente foi de 28,5±6,9 anos para as mães e 31,4±7,4 anos para os pais. A maioria dos indivíduos (97,5%) possuía acometimento auricular, 90,2% tinham manifestações faciais, 65,9%, vertebrais, 53,7%, oculares, 36,6%, cardiovasculares, 29,3%, urogenitais e 17%, no sistema nervoso central. Além disso, 34% dos pacientes apresentavam a tríade clássica óculo-aurículo-vertebral, e todos os pacientes exceto um apresentavam concomitantemente problemas em outros órgãos ou sistemas. Conclusão: já que o diagnóstico desta entidade é eminentemente clínico, é imprescindível que os médicos das mais diversas especialidades conheçam os achados mais frequentes na OAV. Diante de um paciente com suspeita diagnóstica, deve ser realizada avaliação detalhada de outros órgãos, tanto clínica como por meio de exames complementares. O tratamento é baseado na correção cirúrgica das malformações e na reabilitação.

A Female Case of Goldenhar Syndrome with Mandibular Hypoplasia and Aural Involvement.

Goldenhar syndrome (GS) is a poly-malformation syndrome, also defined as oculo-auricolo-vertebral dysplasia with hemifacial microsomia. It is a rare congenital defect involving first and second branchial arches. The aetiology is not known. The most supported hypothesis is based on the abnormal embryonic vascular supply after mesodermal migration. Autosomal dominant, autosomal recessive and multifactorial modes of inheritance have been reported. We report the case of a female neonate affected by hemifacial microsomia and presence of pre-auricular tragi. Patients were subjected to computed tomography scan and MRI that revealed a mandibular unilateral hypoplasia without association of skeleton, brain and ocular alteration. The purpose of our study was to define the important role of the CT and MRI in the diagnosis of this poly-marformation syndrome.

Anesthetic management for surgery of esophagus atresia in a newborn with Goldenhar's syndrome / Manejo anestésico para cirurgia de atresia de esôfago em um recém-nascido com síndrome de Goldenhar / Manejo anestésico para la cirugía de atresia de esófago en un neonato con síndrome de Goldenhar

Goldenhar's syndrome is a polymalformative condition consisting of a craniofacial dysostosis that determines difficult airway in up to 40% of cases. We described a case of a newborn with Goldenhar's syndrome with esophageal atresia and tracheoesophageal fistula who underwent repair surgery.

A síndrome de Goldenhar é um quadro de polimalformação que consiste em uma disostose craniofacial que determina uma via respiratória difícil em até 40% dos casos. Nós descrevemos um caso de um recém-nascido com síndrome de Goldenhar com atresia de esôfago e fístula traqueoesofágica para a qual foi feita cirurgia de reparo.

El síndrome de Goldenhar es un cuadro polimalformativo consistente en una disostosis craneofacial que condiciona una vía aérea difícil hasta en el 40% de los casos. Describimos un caso de un neonato con síndrome de Goldenhar con atresia de esófago y fístula traqueoesofágica al que se practicó cirugía de reparación de la misma.

Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study / Características clínicas e citogenéticas de uma amostra brasileira de pacientes com fenótipo de espectro óculo-aurículo-vertebral: um estudo transversal

CONTEXT AND OBJECTIVE: Oculo-auriculo-vertebral spectrum (OAVS) is considered to be a defect of embryogenesis involving structures originating from the first branchial arches. Our objective was to describe the clinical and cytogenetic findings from a sample of patients with the phenotype of OAVS. DESIGN AND SETTING: Cross-sectional study in a referral hospital in southern Brazil. METHODS: The sample consisted of 23 patients who presented clinical findings in at least two of these four areas: orocraniofacial, ocular, auricular and vertebral. The patients underwent a clinical protocol and cytogenetic evaluation through high-resolution karyotyping, fluorescence in situ hybridization for 5p and 22q11 microdeletions and investigation of chromosomal instability for Fanconi anemia. RESULTS: Cytogenetic abnormalities were observed in three cases (13%) and consisted of: 47,XX,+mar; mos 47,XX,+mar/46,XX; and 46,XX,t(6;10)(q13; q24). We observed cases of OAVS with histories of gestational exposition to fluoxetine, retinoic acid and crack. One of our patients was a discordant monozygotic twin who had shown asymmetrical growth restriction during pregnancy. Our patients with OAVS were characterized by a broad clinical spectrum and some presented atypical findings such as lower-limb reduction defect and a tumor in the right arm, suggestive of hemangioma/lymphangioma. CONCLUSIONS: We found a wide range of clinical characteristics among the patients with OAVS. Different chromosomal abnormalities and gestational expositions were also observed. Thus, our findings highlight the heterogeneity of the etiology of OAVS and the importance of these factors in the clinical and cytogenetic evaluation of these patients. .

CONTEXTO E OBJETIVO: O espectro oculoauriculovertebral (EOAV) é considerado um defeito de embriogênese envolvendo estruturas originadas a partir dos primeiros arcos branquiais. Nosso objetivo foi descrever os achados clínicos e citogenéticos de uma amostra de pacientes com fenótipo de EOAV. TIPO DE ESTUDO E LOCAL: Estudo transversal em um hospital de referência no sul do Brasil. MÉTODOS: A amostra foi composta de 23 pacientes que apresentaram achados clínicos em pelo menos duas das quatro áreas: orocraniofacial, oculares, auriculares e vertebrais. Os pacientes foram submetidos a um protocolo clínico e avaliação citogenética através do cariótipo de alta resolução, hibridização in situ fluorescente para as microdeleções 5p e 22q11 e pesquisa de instabilidade cromossômica para anemia de Fanconi. RESULTADOS: Alterações citogenéticas foram observadas em três casos (13%) e consistiam de: 47,XX,+mar; mos 47,XX,+mar/46,XX e 46,XX,t(6;10)(q13;q24). Observamos casos de EOAV com história de exposição gestacional à fluoxetina, ácido retinoico e crack. Um dos nossos pacientes foi um gêmeo monozigótico discordante que teve restrição de crescimento assimétrica durante a gravidez. Nossos pacientes com EOAV foram caracterizados por um amplo espectro clínico e alguns apresentaram achados clínicos atípicos como um defeito de redução de membro inferior e um tumor do braço direito, sugestivo de hemangioma/linfangioma. CONCLUSÕES: Verificamos grande variedade de características clínicas entre os pacientes com EOAV. Também foram observadas diferentes anomalias cromossômicas e exposições gestacionais. Assim, nossos achados salientam a heterogeneidade da etiologia do EOAV e a importância desses fatores na avaliação clínica e citogenética desses pacientes. .

Audiological Findings in Patients with OculoAuriculo-Vertebral Spectrum

Introduction Oculo-auriculo-vertebral spectrum, also referred to as Goldenhar syndrome, is a condition characterized by alterations involving the development of the structures of the first and second branchial arches. The abnormalities primarily affect the face, the eyes, the spine, and the ears, and the auricular abnormalities are associated with possible hearing loss. Objective To analyze the audiological findings of patients with oculo-auriculo-vertebral spectrum through liminal pure-tone audiometry and speech audiometry test. Methods Cross-sectional study conducted on 10 patients with oculo-auriculo-vertebral spectrum and clinical findings on at least two of the following areas: orocraniofacial, ocular, auricular, and vertebral. All patients underwent tonal and vocal hearing evaluations. Results Seven patients were male and three were female; all had ear abnormalities, and the right side was the most often affected. Conductive hearing loss was the most common (found in 10 ears), followed by sensorineural hearing loss (in five ears), with mixed hearing loss in only one ear. The impairment of the hearing loss ranged frommild to moderate, with one case of profound loss. Conclusions The results show a higher frequency of conductive hearing loss among individuals with the oculo-auriculo-vertebral spectrum phenotype, especially moderate loss affecting the right side. Furthermore, research in auditory thresholds in the oculoauriculo- vertebral spectrum is important in speech therapy findings about the disease to facilitate early intervention for possible alterations. .

Goldenhar Syndrome: Case Report.

Goldenhar syndrome or fascio-auriculo-vertebral dysplasia or oculo-auriculo-vertebral syndrome is a sporadic or autosomal dominant inherited genetic rare syndrome characterized by mandibular hypoplasia, facial asymmetry, low set ear or atresia of ear canal, preauricular skin tags, hemi vertebra in cervical region, epibulbar dermoid, coloboma of upper eyelid, limb dermoids, cardiac abnormalities and other systemic abnormalities includes facial involvement, predisposing to the right side or there may be a more complex phenotypic abnormality with the skeletal, cardiac, renal and pulmonary systems. Central nervous system involvement are common with these patients, particularly there are higher chances with ophthalmologic anomalies. 50% of the patients with Goldenhar would have either conductive and/or sensorineural hearing loss. This case report describes a typical 40-year-old female patient who presented to the hospital with auricular abnormality and diminished hearing and was found to have the fascioauriculo-vertebral dysplasia spectrum of this syndrome and hypothyroidism. Diagnosis was based principally on clinical aspects. Radiology, laboratory fi ndings, otorhinolaryngologic evaluations were important in reaching a defi nitive diagnosis. Management depends on the patient’s age and systemic clinical manifestations, with a multidisciplinary approach often being required.

Neonatal Presentation and Follow-up of Goldenhar Syndrome / 대한주산의학회잡지

PURPOSE: Expression patterns, associated anomalies and progress of the patients with Goldenhar syndrome from the neonatal period were systematically investigated. This allows us to evaluate the need for early diagnosis. METHODS: This is a retrospective study of 29 infants with Goldenhar syndrome whose diagnosed in Samsung Medical Center between 1994 and 2013. Associated anomalies and procedures between neonatal group (n=13) and non-neonatal group (n=16) were systematically compared. RESULTS: Mean gestational age in the neonatal group were 38+1+/-2+4 weeks and 3 patients (23%) were preterm infants. The average birth weight in the neonatal group were 2,853+/-544 grams. Goldenhar syndrome was mainly diagnosed by ear and face anomalies during the neonatal period. The associated anomalies in neonatal group were cardiovascular anomaly (54%), genitourinary anomaly (30%), vertebral anomaly (15%), and others (31%). About 40% of patients who had long-term follow-up revealed hearing abnormalities and about 1/4 of all patients had bilateral hearing problem, which resulted in requiring hearing aid devices. In addition, the most common procedure performed during follow-up was preauricular skin tag removal. And other procedures or surgery related to oral, eyes, and others were performed in each 1/4 of the patients. Cardiac surgery was done in 15% of total patients. Frequency of associated anomalies and performed procedures between the patients diagnosed at neonatal and non-neonatal period was not significantly different. CONCLUSION: A multidisciplinary approach should be undertaken by multi-departments when evaluating patients with Goldenhar syndrome. In particular if the patient has an ear anomaly, careful hearing test is required in early life.

Craniofacial abnormalities among patients with Edwards Syndrome / Anormalidades craniofaciales entre pacientes con sindrome de Edwards / Anormalidades craniofaciais em pacientes com Sindrome de Edwards

OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature. .

OBJETIVO Verificar la frecuencia y los tipos de alteraciones craniofaciales observadas en pacientes con trisomía del cromosoma 18 o síndrome de Edwards (SE). MÉTODOS: Estudio descriptivo y retrospectivo de una serie de casos que incluyó a todos los pacientes diagnosticados con SE en un Servicio de Genética Clínica de un hospital de referencia en el sur de Brasil, en el periodo de 1975 a 2008. Los resultados del análisis cariotípico, juntamente con datos clínicos, fueron recogidos a partir de los prontuarios médicos. RESULTADOS: La muestra fue compuesta por 50 pacientes. De estos, el 66% eran del sexo femenino. La mediana de edad en el momento de la primera evaluación fue de 14 días. Respecto a los cariotipos, la trisomía libre del cromosoma 18 fue la alteración principal (90%). Se observó mosaicismo en el 10%. Las principales anormalidades craniofaciales observadas consistieron en microrretrognatia (76%), anormalidades de hélix de las orejas/orejas displásicas (70%), occipital prominente (52%), orejas retrovertidas (46%) y bajo implantadas (44%) y hendiduras palpebrales/blefarofimosis (46%). Otras anormalidades poco comunes, pero relevantes, fueron microtia (18%), hendiduras orofaciales (12%), apéndices preauriculares (10%), parálisis facial (4%), encefalocele (4%), ausencia de conducto auditivo externo (2%) y asimetría facial (2%). Uno de los pacientes presentaba sospecha inicial de espectro óculo-auricular-vertebral (EOAV) o síndrome de Goldenhar. CONCLUSIONES A pesar de la descripción en la literatura de cuadro clínico usualmente característico para la SE, las alteraciones craniofaciales pueden ser variables en esos pacientes. Llaman la atención los hallazgos pertenecientes al EOAV, siendo que la asociación de SE con esa condición se observó en la literatura en un relato de caso. .

OBJETIVO Verificar a frequência e os tipos de alterações craniofaciais observadas em pacientes com trissomia do cromossomo 18 ou síndrome de Edwards (SE). MÉTODOS: Estudo descritivo e retrospectivo de uma série de casos que incluiu todos os pacientes diagnosticados com SE em um Serviço de Genética Clínica de um hospital de referência do sul do país, no período de 1975 a 2008. Os resultados da análise cariotípica, juntamente com dados clínicos, foram coletados a partir dos prontuários médicos. RESULTADOS A amostra foi composta de 50 pacientes. Destes, 66% eram do sexo feminino. A mediana da idade no momento da primeira avaliação foi de 14 dias. Quanto aos cariótipos, a trissomia livre do cromossomo 18 foi a alteração principal (90%). Observou-se mosaicismo em 10%. As principais anormalidades craniofaciais observadas consistiram de microrretrognatia (76%), anormalidades de hélix das orelhas/orelhas displásicas (70%), occipital proeminente (52%), orelhas retrovertidas (46%) e baixo implantadas (44%) e fendas palpebrais pequenas/blefarofimose (46%). Outras anormalidades incomuns, mas relevantes, foram microtia (18%), fendas orofaciais (12%), apêndices pré-auriculares (10%), paralisia facial (4%), encefalocele (4%), ausência de conduto auditivo externo (2%) e assimetria de face (2%). Um dos pacientes apresentava suspeita inicial de espectro óculo-aurículo-vertebral (EOAV) ou síndrome de Goldenhar. CONCLUSÕES Apesar da descrição na literatura de quadro clínico usualmente característico para a SE, as alterações craniofaciais podem ser variáveis nesses pacientes. Chamam atenção os achados pertencentes ao EOAV, sendo que a associação de SE com essa condição foi observada na literatura em um relato de caso. .

Goldenhar syndrome.

Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.

Successful tracheal intubation using fiberoptic bronchoscope via an I-gel(TM) supraglottic airway in a pediatric patient with Goldenhar syndrome: A case report / 대한마취과학회지

The I-gel(TM) is a single-use supraglottic airway device introduced in 2007 which features a non-inflatable cuff and allows passage of a tracheal tube owing to its large diameter and short length of the airway tube. In this case, the authors experienced a difficult airway management on a 4-year-old boy with underlying Goldenhar syndrome who underwent a tonsillectomy. Intubation using a laryngoscope was unsuccessful at the first attempt. In the following attempt, we used the I-gel(TM) supraglottic airway for ventilation and were able to achieve successful intubation with a cuffed tube by using fiberoptic bronchoscope through the I-gel(TM) supraglottic airway. The authors suggest that I-gel(TM) is a useful device for ventilation and it has many advantages for tracheal intubation in pediatric patients with difficult airway.